ClinVar Miner

Submissions for variant NM_000099.4(CST3):c.73G>A (p.Ala25Thr) (rs1064039)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005989 SCV000026171 pathogenic Age-related macular degeneration 11 2002-02-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000005989 SCV001142496 benign Age-related macular degeneration 11 2020-01-06 no assertion criteria provided curation NM_000099.2:c.73G>A in the gene CST3 has an allele frequency of 0.297 in South Asian subpopulation in the gnomAD database. A total of 3515 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1; BS2.

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