ClinVar Miner

Submissions for variant NM_014762.4(DHCR24):c.500T>C (p.Leu167Ser)

dbSNP: rs1557437639
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679961 SCV000807395 uncertain significance Desmosterolosis 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in trans with a known pathogenic mutation in a 2-year-old male with global delays, hypotonia, brain anomalies, and elevated desmosterol.

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