ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1218+27G>C

gnomAD frequency: 0.09086  dbSNP: rs677
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen Thrombosis Variant Curation Expert Panel, ClinGen RCV001807492 SCV004037393 benign Hereditary antithrombin deficiency 2023-07-25 reviewed by expert panel curation The NM_000488.4:c.1218+27G>C variant is reported at an Popmax FAF MAF of 0.2409 (4979/19948 alleles) in the East Asian population in the genomes in gnomAD v2.1.1 with a total of 2550 homozygotes, meeting BA1 criteria of FAF >= 0.002. The variant is not predicted to cause a splicing impact by by SpliceAI and VARSEAK, and the nucleotide is not conserved with a PhyloP score of -1.65 and a PhastCons score of ~0. In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Thrombosis Variant Curation Expert Panel for SERPINC1: BA1, BP4, BP7.
GeneDx RCV001671752 SCV001889906 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807492 SCV002054785 benign Hereditary antithrombin deficiency 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001671752 SCV005288531 benign not provided criteria provided, single submitter not provided

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