ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21906C>T (p.Asn7302=)

gnomAD frequency: 0.00001  dbSNP: rs757845188
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878282 SCV001021161 likely benign Nemaline myopathy 2 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432859 SCV004154113 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing NEB: BP4, BP7
Natera, Inc. RCV000878282 SCV001463288 likely benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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