ClinVar Miner

Submissions for variant NM_001004486.1(OR13H1):c.191G>A (p.Ser64Asn)

gnomAD frequency: 0.00006  dbSNP: rs376878717
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004039415 SCV003679950 uncertain significance not specified 2022-12-21 criteria provided, single submitter clinical testing The c.191G>A (p.S64N) alteration is located in exon 1 (coding exon 1) of the OR13H1 gene. This alteration results from a G to A substitution at nucleotide position 191, causing the serine (S) at amino acid position 64 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573805 SCV001800191 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573805 SCV001976309 likely benign not provided no assertion criteria provided clinical testing

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