ClinVar Miner

Submissions for variant NM_001351578.2(ODF2):c.2662G>A (p.Ala888Thr)

gnomAD frequency: 0.00052  dbSNP: rs372276840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000919784 SCV001065138 likely benign not provided 2018-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029446 SCV003687552 uncertain significance not specified 2023-11-03 criteria provided, single submitter clinical testing The c.2605G>A (p.A869T) alteration is located in exon 21 (coding exon 21) of the ODF2 gene. This alteration results from a G to A substitution at nucleotide position 2605, causing the alanine (A) at amino acid position 869 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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