ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.711-16A>C

gnomAD frequency: 0.00003  dbSNP: rs747396066
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001083 SCV001158216 likely benign not specified 2019-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505529 SCV002798052 likely benign Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 2022-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549152 SCV003446154 likely benign Bardet-Biedl syndrome 2022-08-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704399 SCV005217848 likely benign not provided criteria provided, single submitter not provided

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