ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.627C>T (p.Ile209=)

gnomAD frequency: 0.00004  dbSNP: rs374582626
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 RCV000941864 SCV001087766 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489265 SCV002798360 likely benign Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 2021-07-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274431 SCV001458590 uncertain significance GRACILE syndrome 2020-01-17 no assertion criteria provided clinical testing

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