ClinVar Miner

Submissions for variant NM_153214.3(FBLN7):c.962A>G (p.Asn321Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004621046 SCV005113138 uncertain significance not specified 2024-05-24 criteria provided, single submitter clinical testing The c.962A>G (p.N321S) alteration is located in exon 8 (coding exon 8) of the FBLN7 gene. This alteration results from a A to G substitution at nucleotide position 962, causing the asparagine (N) at amino acid position 321 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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