ClinVar Miner

Submissions for variant NM_001394962.1(KIAA1210):c.202G>A (p.Val68Ile)

gnomAD frequency: 0.00124  dbSNP: rs201254782
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902601 SCV001047031 likely benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028530 SCV003727424 uncertain significance not specified 2021-07-13 criteria provided, single submitter clinical testing The c.622G>A (p.V208I) alteration is located in exon 4 (coding exon 4) of the KIAA1210 gene. This alteration results from a G to A substitution at nucleotide position 622, causing the valine (V) at amino acid position 208 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000902601 SCV005206731 likely benign not provided criteria provided, single submitter not provided

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