ClinVar Miner

Submissions for variant NM_001164507.2(NEB):c.21363A>G (p.Val7121=)

gnomAD frequency: 0.00001  dbSNP: rs202172327
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997226 SCV001152437 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001493812 SCV001698448 likely benign Nemaline myopathy 2 2020-08-29 criteria provided, single submitter clinical testing

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