ClinVar Miner

Submissions for variant NM_152578.3(FMR1NB):c.35A>G (p.Asn12Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004276248 SCV003901491 uncertain significance not specified 2023-02-28 criteria provided, single submitter clinical testing The c.35A>G (p.N12S) alteration is located in exon 1 (coding exon 1) of the FMR1NB gene. This alteration results from a A to G substitution at nucleotide position 35, causing the asparagine (N) at amino acid position 12 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003435997 SCV004166179 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing FMR1NB: BP4, BS2

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