ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.707T>C (p.Phe236Ser)

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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 RCV004415665 SCV004899799 uncertain significance Inborn genetic diseases 2023-12-09 criteria provided, single submitter clinical testing The c.707T>C (p.F236S) alteration is located in exon 8 (coding exon 7) of the ABCB11 gene. This alteration results from a T to C substitution at nucleotide position 707, causing the phenylalanine (F) at amino acid position 236 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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