ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=)

dbSNP: rs200553205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673477 SCV000798681 uncertain significance Cholestanol storage disease 2018-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026130 SCV004852525 uncertain significance Cardiovascular phenotype 2024-02-28 criteria provided, single submitter clinical testing Occurs in the last base pair of the exon Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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