ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1206C>T (p.Cys402=)

gnomAD frequency: 0.00134  dbSNP: rs199695976
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724888 SCV000332161 uncertain significance not provided 2015-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000724888 SCV000527291 likely benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081018 SCV000640511 benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001081018 SCV001457265 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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