ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=)

gnomAD frequency: 0.00157  dbSNP: rs113358058
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724280 SCV000226118 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000724280 SCV000513176 likely benign not provided 2020-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724280 SCV001058409 benign not provided 2024-10-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271476 SCV001452665 uncertain significance Bilateral frontoparietal polymicrogyria 2020-01-17 no assertion criteria provided clinical testing

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