ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.465A>G (p.Val155=)

dbSNP: rs1202503765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550862 SCV000652293 likely benign Usher syndrome type 3B 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024223 SCV002755244 likely benign not specified 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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