ClinVar Miner

Submissions for variant NM_182641.4(BPTF):c.4749C>T (p.Thr1583=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002958974 SCV003283379 benign not provided 2022-08-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002958974 SCV005093254 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing BPTF: BP4, BP7

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