ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.5747C>T (p.Thr1916Ile)

gnomAD frequency: 0.00039  dbSNP: rs373276045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002266174 SCV002547716 uncertain significance not specified 2022-05-03 criteria provided, single submitter clinical testing
Invitae RCV003698892 SCV004462010 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004612167 SCV005111090 uncertain significance Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The c.5747C>T (p.T1916I) alteration is located in exon 38 (coding exon 38) of the ABCA12 gene. This alteration results from a C to T substitution at nucleotide position 5747, causing the threonine (T) at amino acid position 1916 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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