ClinVar Miner

Submissions for variant NM_002819.5(PTBP1):c.264C>T (p.Leu88=)

gnomAD frequency: 0.00339  dbSNP: rs61757784
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 RCV000971337 SCV001118978 benign not provided 2018-07-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971337 SCV004138988 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PTBP1: BP4, BP7, BS2

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