ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.145-10T>C

gnomAD frequency: 0.00001  dbSNP: rs754997963
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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 RCV001935799 SCV002195590 likely benign Bardet-Biedl syndrome 2024-02-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479412 SCV002789056 uncertain significance Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 2022-05-09 criteria provided, single submitter clinical testing

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