ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr)

gnomAD frequency: 0.07143  dbSNP: rs886038435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244504 SCV000307214 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001705348 SCV000729996 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000641422 SCV000763063 uncertain significance Nemaline myopathy 2 2017-12-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000641422 SCV001456740 likely benign Nemaline myopathy 2 2020-05-30 no assertion criteria provided clinical testing

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