ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.609G>A (p.Gln203=)

gnomAD frequency: 0.00039  dbSNP: rs149074963
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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
CeGaT Center for Human Genetics Tuebingen RCV000996590 SCV001151383 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CLTC: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV000996590 SCV002417342 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000996590 SCV005211155 likely benign not provided criteria provided, single submitter not provided

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