ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.693+10C>T

gnomAD frequency: 0.00057  dbSNP: rs186027440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000900330 SCV001044642 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950551 SCV004762136 likely benign MYH14-related condition 2019-11-04 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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