ClinVar Miner

Submissions for variant NM_003097.6(SNRPN):c.183T>C (p.Arg61=)

gnomAD frequency: 0.00031  dbSNP: rs373215950
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000261541 SCV000390121 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000909620 SCV001054435 likely benign not provided 2018-04-06 criteria provided, single submitter clinical testing

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