ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.345C>T (p.Asn115=)

gnomAD frequency: 0.00009  dbSNP: rs562263201
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001068807 SCV001233939 likely benign Myofibrillar myopathy 4 2023-10-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130150 SCV003816511 uncertain significance not provided 2019-07-31 criteria provided, single submitter clinical testing

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