ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) (rs61740776)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041526 SCV000065221 benign not specified 2011-08-26 criteria provided, single submitter clinical testing Asn1203Ser in exon 29 of OTOF: This variant is not expected to have clinical sig nificance due to a frequency of 5.9% (7/118) in Black controls (rs61740776).
Illumina Clinical Services Laboratory,Illumina RCV000279945 SCV000429607 likely benign Deafness, autosomal recessive 9 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000041526 SCV000723945 benign not specified 2018-03-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000881039 SCV001024179 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000881039 SCV001144821 benign not provided 2018-09-14 criteria provided, single submitter clinical testing

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