ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.423+108A>G

gnomAD frequency: 0.21870  dbSNP: rs2235349
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001512982 SCV001720499 benign not provided 2024-10-21 criteria provided, single submitter clinical testing
GeneDx RCV001512982 SCV001895924 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15992519, 17210142)
Breakthrough Genomics, Breakthrough Genomics RCV001512982 SCV005275867 benign not provided criteria provided, single submitter not provided

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