ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) (rs80033599)

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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 RCV000036170 SCV000059822 benign not specified 2011-06-21 criteria provided, single submitter clinical testing Asn1650Asn in exon 36 of MYO7A: This variant is predicted to be benign based on its high frequency in the general population (dbSNP rs80033599).
Illumina Clinical Services Laboratory,Illumina RCV000363792 SCV000374405 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268680 SCV000374406 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328945 SCV000374407 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000036170 SCV000729225 benign not specified 2017-12-18 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.

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