ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.3373C>G (p.Pro1125Ala)

gnomAD frequency: 0.00006  dbSNP: rs746347255
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001771813 SCV002011752 uncertain significance Snijders Blok-Campeau syndrome 2021-06-21 no assertion criteria provided clinical testing

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