ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.1400C>T (p.Pro467Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003142898 SCV003821659 uncertain significance not provided 2019-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005011246 SCV005637683 uncertain significance Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 2024-01-31 criteria provided, single submitter clinical testing

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