ClinVar Miner

Submissions for variant NM_001386795.1(DTNA):c.978G>A (p.Lys326=)

gnomAD frequency: 0.00005  dbSNP: rs200830541
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000608619 SCV000743511 likely benign Left ventricular noncompaction 1 2017-08-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000608619 SCV001100505 likely benign Left ventricular noncompaction 1 2022-07-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608619 SCV000733788 likely benign Left ventricular noncompaction 1 no assertion criteria provided clinical testing

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