ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.26G>A (p.Ser9Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004413182 SCV004898210 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.26G>A (p.S9N) alteration is located in exon 2 (coding exon 1) of the ABCB11 gene. This alteration results from a G to A substitution at nucleotide position 26, causing the serine (S) at amino acid position 9 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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