ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4467C>T (p.Asp1489=)

gnomAD frequency: 0.00007  dbSNP: rs746379075
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000954778 SCV001101437 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954778 SCV004140524 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing MYH14: BP4, BP7

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