ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3748C>G (p.Arg1250Gly)

dbSNP: rs755558753
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594986 SCV000703761 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278927 SCV003957444 uncertain significance Inborn genetic diseases 2023-04-04 criteria provided, single submitter clinical testing The c.3748C>G (p.R1250G) alteration is located in exon 30 (coding exon 30) of the WDR62 gene. This alteration results from a C to G substitution at nucleotide position 3748, causing the arginine (R) at amino acid position 1250 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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