ClinVar Miner

Submissions for variant NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln)

dbSNP: rs1206863775
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560814 SCV000639440 likely benign Androgen resistance syndrome; Kennedy disease 2024-08-13 criteria provided, single submitter clinical testing
GeneDx RCV004777718 SCV005390663 uncertain significance not provided 2024-03-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame insertion of 3 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge

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