ClinVar Miner

Submissions for variant NM_203475.3(PORCN):c.288C>T (p.Gly96=)

gnomAD frequency: 0.00013  dbSNP: rs200263603
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176014 SCV000227595 uncertain significance not provided 2015-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000176014 SCV003474032 benign not provided 2022-05-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000176014 SCV004165422 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing PORCN: BP4, BP7, BS2

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