ClinVar Miner

Submissions for variant NM_001142446.2(ANK1):c.127-39509T>C (rs77173848)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988052 SCV001137612 benign Spherocytosis type 1 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000000536 SCV000020685 pathogenic Spherocytosis, type 1, autosomal recessive 1996-06-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000000536 SCV001142389 benign Spherocytosis, type 1, autosomal recessive 2020-01-06 no assertion criteria provided curation NG_012820.1(NM_001142446.2):c.127-39509T>C in the ANK1 gene has an allele frequency of 0.112 in African subpopulation in the gnomAD database. 69 homozygous occurrences are observed in the gnomAD database. This variant was reported as -108T-C in a patient, compound heterozygous with V463I (PMID: 8640229). This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2, PM3.

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