ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.158T>C (p.Leu53Ser)

dbSNP: rs1595939283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995228 SCV001149293 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
DNA-diagnostics Laboratory, Research Centre For Medical Genetics RCV004577951 SCV005061810 uncertain significance Bardet-Biedl syndrome 8 criteria provided, single submitter clinical testing

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