ClinVar Miner

Submissions for variant NM_001142446.2(ANK1):c.127-39554G>A (rs183894680)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000541 SCV000020690 pathogenic Spherocytosis, type 1, autosomal recessive 2000-12-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000000541 SCV001142390 benign Spherocytosis, type 1, autosomal recessive 2020-01-06 no assertion criteria provided curation NG_012820.1(NM_001142446.2):c.127-39554G>A in the ANK1 gene has an allele frequency of 0.02 in African subpopulation in the gnomAD database. 6 homozygous occurrences are observed in the gnomAD database. This variant was reported as -153G-A in a hereditary spherocytosis patient (PMID: 11102985). Benign computational verdict because benign prediction from DANN. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BS2, BP4.

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