ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.3892G>A (p.Gly1298Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131848 SCV003814232 uncertain significance 3M syndrome 2 2022-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294640 SCV004007691 uncertain significance Inborn genetic diseases 2023-04-05 criteria provided, single submitter clinical testing The c.3892G>A (p.G1298S) alteration is located in exon 12 (coding exon 12) of the OBSL1 gene. This alteration results from a G to A substitution at nucleotide position 3892, causing the glycine (G) at amino acid position 1298 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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