ClinVar Miner

Submissions for variant NM_004425.4(ECM1):c.1100A>T (p.Asp367Val)

gnomAD frequency: 0.00732  dbSNP: rs151102225
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Total submissions: 4
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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 RCV000441817 SCV000510580 likely benign not provided 2016-12-30 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000441817 SCV001119379 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338580 SCV004049149 likely benign Lipid proteinosis 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000441817 SCV004699383 benign not provided 2024-02-01 criteria provided, single submitter clinical testing ECM1: BS1, BS2

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