ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4033G>A (p.Ala1345Thr)

gnomAD frequency: 0.00104  dbSNP: rs148054042
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515117 SCV000610368 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
Invitae RCV000515117 SCV001050663 likely benign not provided 2022-06-27 criteria provided, single submitter clinical testing

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