ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.465C>T (p.Ser155=)

gnomAD frequency: 0.00001  dbSNP: rs1253468754
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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 RCV001469685 SCV001673768 likely benign Bardet-Biedl syndrome 2023-08-29 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888189 SCV004707805 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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