ClinVar Miner

Submissions for variant NC_000006.11:g.(?_51612575)_(51618161_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383700 SCV001582943 pathogenic Autosomal recessive polycystic kidney disease 2022-02-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 57-58 of the PKHD1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with polycystic kidney disease (PMID: 16199545). The region of the PKHD1 gene that includes exon(s) 57 has been determined to be clinically significant (PMID: 30017326). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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