ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn)

gnomAD frequency: 0.00001  dbSNP: rs1465733702
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 RCV000645284 SCV000767026 likely benign Intellectual disability, autosomal dominant 1 2023-09-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000645284 SCV004236315 uncertain significance Intellectual disability, autosomal dominant 1 2023-11-06 criteria provided, single submitter clinical testing

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