ClinVar Miner

Submissions for variant NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp)

gnomAD frequency: 0.00282  dbSNP: rs151283330
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000425299 SCV000511294 uncertain significance not provided 2016-06-16 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000486312 SCV000568094 benign not specified 2018-02-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000425299 SCV001022668 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000425299 SCV004158634 benign not provided 2022-08-01 criteria provided, single submitter clinical testing ERMARD: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000425299 SCV002035670 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000425299 SCV002038208 likely benign not provided no assertion criteria provided clinical testing

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