ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.939G>C (p.Lys313Asn)

dbSNP: rs1057519325
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000416286 SCV000494051 pathogenic Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 2017-08-15 no assertion criteria provided literature only
OMIM RCV000416300 SCV000494052 pathogenic Waardenburg syndrome type 2A 2017-08-15 no assertion criteria provided literature only

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