ClinVar Miner

Submissions for variant NM_004715.5(CTDP1):c.1056C>G (p.Val352=)

gnomAD frequency: 0.00050  dbSNP: rs147146455
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 RCV000926512 SCV001072075 benign not provided 2018-06-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000926512 SCV004138935 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CTDP1: BP4, BP7

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