ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.306C>T (p.Phe102=)

gnomAD frequency: 0.00138  dbSNP: rs141089248
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878040 SCV001020881 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279594 SCV002566957 benign Connective tissue disorder 2021-05-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507543 SCV002809492 likely benign Child syndrome; CK syndrome 2021-11-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000878040 SCV005279719 benign not provided criteria provided, single submitter not provided

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