ClinVar Miner

Submissions for variant NM_005993.5(TBCD):c.3518G>A (p.Arg1173His)

gnomAD frequency: 0.00243  dbSNP: rs188081246
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893316 SCV001037239 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000893316 SCV001502251 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing TBCD: BP4, BS2

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