ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9072G>A (p.Ala3024=)

gnomAD frequency: 0.00125  dbSNP: rs369897667
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253029 SCV000307402 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001530399 SCV000524459 benign not provided 2018-03-16 criteria provided, single submitter clinical testing
Invitae RCV000555703 SCV000640889 benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001530399 SCV003916142 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing NEB: BP4, BP7, BS2
Natera, Inc. RCV000555703 SCV002077179 benign Nemaline myopathy 2 2019-12-05 no assertion criteria provided clinical testing

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