ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2097C>T (p.Gly699=)

gnomAD frequency: 0.00046  dbSNP: rs373495082
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591799 SCV000702644 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000591799 SCV001662043 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000591799 SCV001816216 likely benign not provided 2021-03-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952951 SCV004770235 likely benign MYO7A-related condition 2019-12-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001279395 SCV001466490 uncertain significance Usher syndrome type 1B 2020-04-16 no assertion criteria provided clinical testing

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