ClinVar Miner

Submissions for variant NM_144969.3(ZDHHC15):c.831G>C (p.Lys277Asn)

gnomAD frequency: 0.00052  dbSNP: rs145401990
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238775 SCV000297379 benign not specified 2015-08-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001727655 SCV004165869 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing ZDHHC15: BP4, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000238775 SCV001929722 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727655 SCV001971334 likely benign not provided no assertion criteria provided clinical testing

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