ClinVar Miner

Submissions for variant NM_015107.3(PHF8):c.2129+39G>C

dbSNP: rs2065554551
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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 RCV001331793 SCV001523912 uncertain significance Syndromic X-linked intellectual disability Siderius type 2020-01-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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