ClinVar Miner

Submissions for variant NM_000934.4(SERPINF2):c.361G>A (p.Ala121Thr)

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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 RCV002624606 SCV003517497 likely benign not provided 2020-07-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004070776 SCV004058246 uncertain significance not specified 2023-07-29 criteria provided, single submitter clinical testing The c.361G>A (p.A121T) alteration is located in exon 5 (coding exon 4) of the SERPINF2 gene. This alteration results from a G to A substitution at nucleotide position 361, causing the alanine (A) at amino acid position 121 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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