ClinVar Miner

Submissions for variant NM_001270.2(CHD1):c.1853G>A (p.Arg618Gln) (rs1554078349)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000505806 SCV000599994 pathogenic PILAROWSKI-BJORNSSON SYNDROME 2019-06-24 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000509117 SCV000606959 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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