ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.588C>T (p.Cys196=) (rs2230361)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214979 SCV000269141 benign not specified 2016-02-04 criteria provided, single submitter clinical testing p.Cys196Cys in exon 6 of HARS: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 8% (9547/121084) of pan ethnic chromosomes including over 400 homozygous individuals by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2230361).
Illumina Clinical Services Laboratory,Illumina RCV000335245 SCV000453312 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000214979 SCV000716975 benign not specified 2017-05-09 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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