ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12912G>A (p.Pro4304=)

dbSNP: rs886038430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241598 SCV000307202 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000533844 SCV000640541 likely benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001705347 SCV000713910 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing

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