ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15306C>T (p.Ala5102=)

gnomAD frequency: 0.00010  dbSNP: rs149506333
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000387659 SCV000336225 uncertain significance not provided 2015-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000387659 SCV001042536 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271909 SCV001453404 uncertain significance Usher syndrome type 2A 2019-11-11 no assertion criteria provided clinical testing

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