ClinVar Miner

Submissions for variant NM_004715.5(CTDP1):c.1066T>C (p.Ser356Pro)

gnomAD frequency: 0.00322  dbSNP: rs139598569
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000905451 SCV001050036 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000905451 SCV001785386 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003910817 SCV004718211 benign CTDP1-related disorder 2019-07-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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