ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3641C>T (p.Thr1214Ile)

dbSNP: rs752898108
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733372 SCV000861436 uncertain significance not provided 2018-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000733372 SCV003500185 likely benign not provided 2022-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535326 SCV003719094 uncertain significance Inborn genetic diseases 2022-09-14 criteria provided, single submitter clinical testing The c.3641C>T (p.T1214I) alteration is located in exon 30 (coding exon 30) of the WDR62 gene. This alteration results from a C to T substitution at nucleotide position 3641, causing the threonine (T) at amino acid position 1214 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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