ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.3220G>A (p.Asp1074Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002724674 SCV003734381 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.3220G>A (p.D1074N) alteration is located in exon 28 (coding exon 28) of the ANK1 gene. This alteration results from a G to A substitution at nucleotide position 3220, causing the aspartic acid (D) at amino acid position 1074 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003491302 SCV004234202 uncertain significance Hereditary spherocytosis type 1 2023-06-06 criteria provided, single submitter clinical testing

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