ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.*8C>T

gnomAD frequency: 0.00099  dbSNP: rs370206645
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153525 SCV000203052 uncertain significance not provided 2014-04-25 criteria provided, single submitter clinical testing
GeneDx RCV000153525 SCV001822992 likely benign not provided 2023-09-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003965143 SCV004785295 likely benign MYO7A-related condition 2019-09-23 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).

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