ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1050T>C (p.Ala350=)

gnomAD frequency: 0.00006  dbSNP: rs777423713
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001404535 SCV001606437 likely benign CHARGE syndrome 2024-09-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706103 SCV005223604 likely benign not provided criteria provided, single submitter not provided

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