ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13626C>G (p.Ala4542=)

dbSNP: rs201225445
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244823 SCV000307217 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000534636 SCV000640567 likely benign Nemaline myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000534636 SCV001455272 likely benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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