ClinVar Miner

Submissions for variant NM_001005388.3(NFASC):c.476C>T (p.Thr159Met)

gnomAD frequency: 0.00899  dbSNP: rs3795564
Minimum review status: Collection method:
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 RCV000881322 SCV001024483 benign not provided 2018-08-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000881322 SCV002562969 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing NFASC: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000881322 SCV005281725 benign not provided criteria provided, single submitter not provided

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